HEXA Human

Hexosaminidase A is a heterodimer consisting of one alpha and one beta subunit. The alpha subunit is encoded by the HEXA gene, while the beta subunit is encoded by the HEXB gene. The enzyme’s primary function is to hydrolyze terminal N-acetyl-D-hexosamine residues in GM2 gangliosides and other glycosphingolipids .

Recombinant human Hexosaminidase A is produced using baculovirus expression systems in insect cells, such as Spodoptera frugiperda (Sf21). The recombinant protein typically includes a C-terminal His-tag for purification purposes . The recombinant form is used in various research applications, including studies on lysosomal storage disorders and enzyme replacement therapies.

Mutations in the HEXA gene can lead to a deficiency in Hexosaminidase A activity, resulting in the accumulation of GM2 gangliosides in neurons. This accumulation causes a group of lysosomal storage disorders known as GM2 gangliosidoses, the most well-known of which is Tay-Sachs disease . Tay-Sachs disease is characterized by progressive neurodegeneration, leading to severe physical and mental disabilities.

Recombinant Hexosaminidase A is utilized in research to understand the enzyme’s role in lysosomal storage disorders and to develop potential therapies. It is also used in biochemical assays to study the enzyme’s activity and kinetics .

Recombinant Hexosaminidase A is typically supplied as a solution in Tris and NaCl and should be stored at -20 to -70°C to maintain stability. It is important to avoid repeated freeze-thaw cycles to preserve the enzyme’s activity .